Varaico: Literature-Extracted Genetic Variants

Gene:RRP36
Variant:p.P94delFs

RRP36

24 papers

RefSeq Summary

RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010].

Pfam Domains

RRP36aa 88–252UCSCrRNA biogenesis protein RRP36

Gene Aliases

HGNC Name

ribosomal RNA processing 36

HGNC Previous Symbol

C6orf153

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033112.4
p.P94delFs
c.281delC
Surrounding Variants
1 paper
NM_033112.4
p.R102*
c.304C>T
2 papers
NM_033112.4
p.A78G
c.233C>G
1 paper
NM_033112.4
p.M48V
c.142A>G
1 paper
NM_033112.4
p.M48_Q59del12
c.142_176del36
1 paper
NM_033112.4
p.K115_V116Splc
c.346-88G>C
1 paper
NM_033112.4
p.R121C
c.361C>T
1 paper
NM_033112.4
p.L156F
c.468G>C
1 paper
NM_033112.4
p.L156F
c.468G>T
1 paper
NM_033112.4
p.H192L
c.575A>T
1 paper
NM_033112.4
p.Q205*
c.613C>T
1 paper
NM_033112.4
p.V37A
c.110T>C
1 paper
NM_033112.4
p.A22_E27del6
c.64_80del18
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